A genetic study of idiopathic focal dystonias

Waddy, Heather; Fletcher, Nicholas; Harding, A. E.; Marsden, C. D.

doi:10.1002/ana.410290315

Cited by 229 publications

(147 citation statements)

References 15 publications

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“…1 It is believed that about 70% of all patients with dystonia have idiopathic or primary dystonia rather than symptomatic or secondary. 1 Investigations have indicated that 25% of all cases of focal dystonia are hereditary, 2 and that 85% of all cases of generalised, multifocal, and segmental dystonia are hereditary. 3 There are at least 11 different gene loci for autosomal, dominant inherited dystonia, one for autosomal, recessive inherited dystonia and one for X-linked, recessive inherited dystonia, but only four genes have been cloned: DYT1, DYT5 (two genes, at 14q22.1 coding for the autosomal dominant dopa responsive dystonia, and at 11p15.5 coding for autosomal recessive) and DYT11.…”

Section: Introductionmentioning

confidence: 99%

Inherited and de novo mutations in sporadic cases of DYT1-dystonia

2002

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A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia. Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three. All three probands had the classical phenotype of DYT1-dystonia, but only one had a family history of dystonia. The other two probands had, obviously, sporadic DYT1-dystonia, one of which was caused by a de novo mutation, while the other one had a parent being an asymptomatic carrier. De novo mutations in the DYT1 gene are seldomly reported although independent founder mutations are known to have occurred. The frequency of DYT1-dystonia was low in our study even though several probands had early onset generalised dystonia. None of the probands in our study with other types of dystonia had the GAG-deletion as reported in other studies. The difficulties in genetic counselling concerning the heterogeneity of dystonia examplified by DYT1-dystonia are outlined.

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Section: Introductionmentioning

confidence: 99%

Inherited and de novo mutations in sporadic cases of DYT1-dystonia

2002

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“…A high index of clinical suspicion is required for the early diagnosis of cervical dystonia and avoid missing the potentially life miserable condition. occur in conjunction with early onset generalized dystonia which is associated with the DYT1 gene 4 . …”

Section: Resultsmentioning

confidence: 99%

“…In about 10-15% of cases more than one family member maybe affected. Several families have been attributed with autosomal dominant 4 , adult onset, primary dystonia. That is focal in distribution affecting the neck region.…”

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confidence: 99%

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A Case of Cervical Dystonia with Non Responsive To Usual Noninvasive Treatment

Hafez

Islam

Nessa

et al. 2017

J Shaheed Suhrawardy Med Coll

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Cervical dystonia is a focal dystonia characterized by neck muscles contracting involuntarily-causing abnormal movement and awkward posture of the head and neck. A rare disorder can occur at any age even at infancy. Symptoms generally begin gradually and then reach a point where they don't get substantially worse. Asymmetry of the sternocleidomastoid (SCM) is often present in untreated patient. There is no cure for cervical dystonia. Injecting botulinum toxin into the affected muscles often reduces the signs and symptoms of cervical dystonia. In this case, it has been described a rare case of a forty seven year old male patient with a history of cervical dystonia presented with struggle with head position, resisting but never overcoming the tendency of his head to assume an unnatural position. The management including drugs like oral analgesic, muscle relaxant, anti-Parkinson drug & even antipsychotic drug were used. Physiatric approach like different modalities of heat such as Short wave diathermy (SWD), Microwave diathermy (MWD) & Ultra sound therapy (UST) were used. Brace like cervical collar and different type of exercise was also prescribed, even botulinum toxin injected into suspected muscles but all discussed above failed in this case. [J Shaheed Suhrawardy Med Coll, 2014;6(1):44-46]

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“…Although most patients with musician's dystonia deny a positive family history, a report on autosomal dominant inherited forms have been made by Schmidt et al (29). About 10 -20% of task specific dystonias have a positive family history (30). Other risk factors such as increasing practice time, psychological stresses, anxiety, personality types have been implicated (27).…”

Section: Epidemiologymentioning

confidence: 99%